header logo image header logo text
Downloads Login
Research
General Information
ZIRC
OBO ID: DOID:0110729
Term Name: neuronal ceroid lipofuscinosis 6 Search Ontology:
Synonyms:
  • CLN6
  • neuronal ceroid lipofuscinosis 6 variable age of onset
Definition: A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23. (2)
References:
Ontology: Human Disease   (DOID:0110729)
OTHER neuronal ceroid lipofuscinosis 6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CLN6 Ceroid lipofuscinosis, neuronal, 6 601780
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS (1)